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一例伴有(X;18)易位的滑膜肉瘤病例报告。荧光原位杂交技术在石蜡包埋组织中的应用。

A case report of synovial sarcoma with translocation (X;18). Application of fluorescence in situ hybridization to paraffin-embedded tissue.

作者信息

Nagao K, Gomyo Y, Ito H, Yamamoto K, Yoshida H

机构信息

Department of Pathology, Faculty of Medicine, Tottori University, Japan.

出版信息

Virchows Arch. 1995;426(5):519-22. doi: 10.1007/BF00193176.

DOI:10.1007/BF00193176
PMID:7633662
Abstract

A 57-year-old female patient with synovial sarcoma in her right foot had a chromosome abnormality defined as translocation (X;18). The tumour was located in the subcutis, and histological investigation showed monophasic proliferation of oval to spindle-shaped cells with a fascicular arrangement lacking an epithelial component. Immunostaining disclosed no cytokeratin or epithelial membrane antigen in tumour cells. Karyotypic analysis revealed translocation (X;18) in addition to other nonspecific aberrations. Fluorescence in situ hybridization was carried out on paraffin-embedded tissue, using DNA probes for the centromeres of chromosomes X and 18 with whole chromosome painting probes for X and 18. The free nuclei showed two signals at a rate of 83-85% with the X and 18 centromeric probes, in contrast to three signals at a rate of 68-70% with the X and 18 painting probes.

摘要

一名57岁的女性患者,右脚患有滑膜肉瘤,其染色体异常表现为易位(X;18)。肿瘤位于皮下,组织学检查显示为椭圆形至梭形细胞的单相增殖,呈束状排列,缺乏上皮成分。免疫染色显示肿瘤细胞中无细胞角蛋白或上皮膜抗原。核型分析显示除其他非特异性畸变外,还存在易位(X;18)。对石蜡包埋组织进行荧光原位杂交,使用针对X和18号染色体着丝粒的DNA探针以及针对X和18号染色体的全染色体涂染探针。游离核在用X和18号着丝粒探针检测时,83 - 85%的细胞核显示两个信号,而在用X和18号涂染探针检测时,68 - 70%的细胞核显示三个信号。

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引用本文的文献

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本文引用的文献

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Use of FISH to detect chromosomal translocations and deletions. Analysis of chromosome rearrangement in synovial sarcoma cells from paraffin-embedded specimens.使用荧光原位杂交技术检测染色体易位和缺失。分析石蜡包埋标本中滑膜肉瘤细胞的染色体重排。
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The t(X;18)(p11.2;q11.2) translocation found in human synovial sarcomas involves two distinct loci on the X chromosome.在人类滑膜肉瘤中发现的t(X;18)(p11.2;q11.2)易位涉及X染色体上两个不同的基因座。
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